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Diseases
Genes (361)
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PURA
Pura Syndrome
Aura (Symptom)
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
PCDH19
Epilepsy-Intellectual Disability In Females
Aura (Symptom)
TTPA
Familial Isolated Vitamin E Deficiency
FMR1
Fragile X Tremor/ataxia Syndrome
Renpenning's Syndrome
PQBP1
Renpenning's Syndrome
PRPS1
Arts Syndrome
FAM20A
Enamel-Renal Syndrome
NFU1
Multiple Mitochondrial Dysfunctions Syndrome
UBA1
X-Linked Spinal Muscular Atrophy Type 2
IFIH1
Singleton Merten Syndrome
ISCU
Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
FLNA
Cluster B Personality Disorders
Aura (Symptom)
Intestinal Neuronal Dysplasia
ASS1
Citrullinemia Type I
GLRB
Hyperekplexia
SLC6A5
Hyperekplexia
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CDKL5
Aura (Symptom)
Craniodiaphyseal Dysplasia
GLRA1
Hyperekplexia
FH
Fumarase Deficiency